Open AccessNewCOL6A6Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
Author(s) -
Véronika Vaclavik,
Leila Tiab,
Young Joo Sun,
Vinit B. Mahajan,
Alexandre Moulin,
Nathalie Allaman-Pillet,
Francis L. Munier,
Daniel F. Schorderet
Publication year - 2022
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.63.3.23
Subject(s) - retinitis pigmentosa , biology , missense mutation , genetics , dystrophy , exon , collagen vi , proband , positional cloning , electroretinography , phenotype , mutation , retina , gene , neuroscience